Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

por Sharon, Dror, Banin, Eyal
Publicado 2015

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia

por Bandah, Dikla, Rosenmann, Ada, Blumenfeld, Anat, Averbukh, Edward, Banin, Eyal, Sharon, Dror
Publicado 2008

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

por Matsevich, Chen, Gopalakrishnan, Prakadeeswari, Obolensky, Alexey, Banin, Eyal, Sharon, Dror, Beryozkin, Avigail
Publicado 2022

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene

por Ali-Nasser, Tahleel, Zayit-Soudry, Shiri, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar
Publicado 2022

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

por Hanany, Mor, Yang, Richard Rui, Lam, Chun Man, Beryozkin, Avigail, Sundaresan, Yogapriya, Sharon, Dror
Publicado 2023

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

por Piñeiro-Gallego, Teresa, Álvarez, María, Pereiro, Inés, Campos, Severiano, Sharon, Dror, Schatz, Patrik, Valverde, Diana
Publicado 2011

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca(2+)-Dependent Cyclic GMP Synthesis

por Wimberg, Hanna, Lev, Dorit, Yosovich, Keren, Namburi, Prasanthi, Banin, Eyal, Sharon, Dror, Koch, Karl-Wilhelm
Publicado 2018

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Terminat...

por Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin
Publicado 2022

Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies

por Ben-Avi, Ravid, Rivera, Antonio, Hendler, Karen, Sharon, Dror, Banin, Eyal, Khateb, Samer, Yahalom, Claudia
Publicado 2022

A new mouse model for retinal degeneration due to Fam161a deficiency

por Beryozkin, Avigail, Matsevich, Chen, Obolensky, Alexey, Kostic, Corinne, Arsenijevic, Yvan, Wolfrum, Uwe, Banin, Eyal, Sharon, Dror
Publicado 2021

A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

por Schatz, Patrik, Bregnhøj, Jesper, Arvidsson, Henrik, Sharon, Dror, Mizrahi-Meissonnier, Liliana, Sander, Birgit, Grønskov, Karen, Larsen, Michael
Publicado 2012

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

por Khateb, Samer, Zelinger, Lina, Ben-Yosef, Tamar, Merin, Saul, Crystal-Shalit, Ornit, Gross, Menachem, Banin, Eyal, Sharon, Dror
Publicado 2012

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

por Aweidah, Hamzah, Salameh, Manar, Yahalom, Claudia, Blumenfeld, Anat, Macarov, Michal, Weisschuh, Nicole, Kohl, Susanne, Banin, Eyal, Sharon, Dror
Publicado 2021

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients

por Pras, Eran, Pras, Elon, Reznik-Wolf, Haike, Sharon, Dror, Raivech, Svetlana, Barkana, Yaniv, Abu-Horowitz, Almogit, Ygal, Rotenstreich, Banin, Eyal
Publicado 2012

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

por Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado 2016

A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant

por Namburi, Prasanthi, Khateb, Samer, Meyer, Segev, Bentovim, Tom, Ratnapriya, Rinki, Khramushin, Alisa, Swaroop, Anand, Schueler-Furman, Ora, Banin, Eyal, Sharon, Dror
Publicado 2020

Enhanced S-cone function with preserved rod function: a new clinical phenotype

por Kinori, Michael, Pras, Eran, Kolker, Andrew, Ferman-Attar, Gili, Moroz, Iris, Moisseiev, Joseph, Bandah-Rozenfeld, Dikla, Mizrahi-Meissonnier, Liliana, Sharon, Dror, Rotenstreich, Ygal
Publicado 2011

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

por AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror
Publicado 2019

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

por Ruberto, Francesco Paolo, Balzano, Sara, Namburi, Prasanthi, Kimchi, Adva, Pescini-Gobert, Rosanna, Obolensky, Alexey, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror, Rivolta, Carlo
Publicado 2021

Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration

por Brandwine, Tal, Ifrah, Reut, Bialistoky, Tzofia, Zaguri, Rachel, Rhodes-Mordov, Elisheva, Mizrahi-Meissonnier, Liliana, Sharon, Dror, Katanaev, Vladimir L., Gerlitz, Offer, Minke, Baruch
Publicado 2021